chr14-102928862-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030943.4(AMN):c.400C>T(p.Arg134Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000482 in 1,452,202 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R134G) has been classified as Uncertain significance.
Frequency
Consequence
NM_030943.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AMN | NM_030943.4 | c.400C>T | p.Arg134Cys | missense_variant | 5/12 | ENST00000299155.10 | |
AMN | XM_011537202.4 | c.238C>T | p.Arg80Cys | missense_variant | 5/12 | ||
AMN | XM_011537203.4 | c.238C>T | p.Arg80Cys | missense_variant | 5/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AMN | ENST00000299155.10 | c.400C>T | p.Arg134Cys | missense_variant | 5/12 | 1 | NM_030943.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000832 AC: 2AN: 240384Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131606
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1452202Hom.: 0 Cov.: 34 AF XY: 0.00000968 AC XY: 7AN XY: 722842
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at